A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539717



Internal ID22408874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132600767..132600767hg38UCSC Ensembl
chr6:132921906..132921906hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400104, nssv14426097
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3539717
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer